C0162565[trait identifier] AND "Phillips Lab, Hematology, University o - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301997	NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)	ABCB6 (G683S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1284646	NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	ABCB6 (G542S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +4 more	GConflicting classifications of pathogenicity
Select item 445477	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	ABCB6 (T521S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +5 more	GBenign/Likely benign
Select item 1301996	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	ABCB6 (A446T +1 more)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +5 more	GBenign/Likely benign
Select item 1227694	NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	ABCB6 (R297Q +1 more)	Single nucleotide variant (missense variant)	ABCB6-related condition +3 more	GBenign
Select item 235291	NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)	ABCB6 (R276W +1 more)	Single nucleotide variant (missense variant)	Variegate porphyria +4 more	GBenign
Select item 769588	NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys)	ABCB6 (R247C +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +2 more	GBenign
Select item 68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6 (R192Q)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria +4 more	GBenign/Likely benign
Select item 217872	NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	ABCB6 (R192W)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria +4 more	GBenign/Likely benign